Our VarSome v10.0 release in June introduced some major functional improvements such as automated CNV classification and new publications functionality. Our August, Varsome v10.1 release does not include such major changes but continues to enhance the usability of the VarSome platform. 

As always these changes reflect our company mission statement “To enable anyone to find, share, use the most comprehensive human genome data - and to collaborate to improve health and lives around the world.”

gnomAD version 3.1.1 for hg38

We have updated the version of gnomAD Genomes for hg38 from gnomAD v3 to v.3.1.1, which brings additional information such as frequencies for mitochondrial (chrM) and includes frequency data for Middle Eastern populations:

We have also updated the gnomAD Coverage data to the latest version (3.0.1):

dbNSFP version 4.2

We have updated the dbNSFP database, from version 4.1 to version 4.2.

The full up to date list of available data sources can be found here.

We now display three additional scores: MetaRNN, DANN (for hg38)  & MCAP:

Note: DANN for hg19 is sourced directly from the DANN data download, whereas for hg38 it is only available via dbNSFP. VarSome Premium members benefit from CADD instead which is a licensed database and regularly updated.

VarSome Clinical

CNV analyses

We have added the option to filter CNV results by pathogenicity:

VarSome Improvements

Linking Publications

Previously, if you selected a variant with more than one genomic allele, all variants were selected by default when you linked a publication. It was therefore possible to incorrectly link a variant by mistake. We have now amended it such that no variants are selected by default in order to prevent incorrect classifications:

Community Contributions

We have amended our Community page to show the top 10 requested variants rather than top 5:

Further Information and Support

Not already a VarSome Premium or VarSome Clinical user? Get in touch and ask for a free trial.

As ever we hope you find these changes and improvements helpful, we’d love to hear any suggestions you may have, support is available as usual from support@varsome.com

- The VarSome Team